A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962327



Internal ID18597571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43079284..43079872hg38UCSC Ensembl
Innerchr17:41231301..41231889hg19UCSC Ensembl
Innerchr17:38484827..38485415hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2097524, nssv2097532, nssv2097528, nssv2097525, nssv2097530, nssv2097527, nssv2097531, nssv2097529, nssv2097523, nssv2097526
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBRCA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962327
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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